MCID: APP015
MIFTS: 52

Apparent Mineralocorticoid Excess malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Metabolic diseases categories

Aliases & Classifications for Apparent Mineralocorticoid Excess

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 49 11 45 51 67
Cortisol 11-Beta-Ketoreductase Deficiency 45 22 65 67
Syndrome of Apparent Mineralocorticoid Excess 10 22 24
Mineralocorticoid Excess Syndrome, Apparent 65 36
Apparent Mineralocorticoid Excess Syndrome 10 12
Ame1 22 67
 
Ame 45 67
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 51
Ulick Syndrome 51
Ame 1 45
M-a 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
apparent mineralocorticoid excess:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 218030
Disease Ontology10 DOID:4367
MeSH36 D043204
Orphanet51 320
SNOMED-CT59 237770005
ICD10 via Orphanet28 E26.1
MESH via Orphanet37 C537422, D043204
UMLS via Orphanet66 C0342488, C2936861
MedGen34 C2936861

Summaries for Apparent Mineralocorticoid Excess

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OMIM:49 Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low... (218030) more...

MalaCards based summary: Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to adrenal gland disease and adrenal gland hyperfunction, and has symptoms including autosomal recessive inheritance, hypertension and hypertensive retinopathy. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid (11-Beta) Dehydrogenase 2), and among its related pathways are Aldosterone-regulated sodium reabsorption and Prostaglandin Synthesis and Regulation. Affiliated tissues include kidney, and related mouse phenotypes are muscle and adipose tissue.

UniProtKB/Swiss-Prot:67 Apparent mineralocorticoid excess: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.

Wikipedia:68 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

Related Diseases for Apparent Mineralocorticoid Excess

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Diseases related to Apparent Mineralocorticoid Excess via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 376)
idRelated DiseaseScoreTop Affiliating Genes
1adrenal gland disease30.3POMC, REN
2adrenal gland hyperfunction30.0HSD11B2, NR3C1, POMC, REN
3hyperglycemia29.9NR3C2, POMC, REN
4pleuropneumonia29.8NR3C1, POMC
5hypertension, essential29.8HSD11B2, NR3C1, NR3C2, POMC, REN
6sexual disorder29.7NR3C1, POMC
7adrenal cortex disease29.6HSD11B1, POMC, REN
8acute mountain sickness10.4
9liddle syndrome10.4
10hypothyroidism10.4
11cerebrovascular disease10.3
12movement disease10.3
13stroke, ischemic10.3
14prostatitis10.3
15marden-walker syndrome10.2NR3C2, REN
16anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
17adult syndrome10.2
18cystic fibrosis10.2
19kindler syndrome10.2
20spinal and bulbar muscular atrophy of kennedy10.2
21child syndrome10.2
22pseudohypoaldosteronism10.2
23nephrocalcinosis10.2
24hypokalemia10.2
25congenital adrenal hyperplasia10.2
26hyperaldosteronism10.2
27steroid inherited metabolic disorder10.2
28kid syndrome10.2
29glucocorticoid resistance10.2NR3C1, NR3C2
30leukemia10.2
31urinary system disease10.2
32trichohepatoenteric syndrome 210.2
33arthritis10.2
34cataract10.2
35nervous system disease10.2
36nose disease10.2
37dwarfism10.2
38neurologic diseases10.2
39spasticity10.2
40fallopian tube adenocarcinoma10.1HSD17B6, REN
41perinephritis10.1HSD11B2, NR3C2, REN
42pericarditis10.1PIK3C2A, REN
43acute leukemia10.1PIK3C2A, REN
44bartter syndrome, type 310.1CLCNKB, REN
45prostate cancer10.1
46ablepharon-macrostomia syndrome10.1
47muscle disorders10.1
48urethral intrinsic sphincter deficiency10.1
49lipoid nephrosis10.1
50disease of mental health10.1

Graphical network of the top 20 diseases related to Apparent Mineralocorticoid Excess:



Diseases related to apparent mineralocorticoid excess

Symptoms for Apparent Mineralocorticoid Excess

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Symptoms by clinical synopsis from OMIM:

218030

Clinical features from OMIM:

218030

HPO human phenotypes related to Apparent Mineralocorticoid Excess:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypertension HP:0000822
3 hypertensive retinopathy HP:0001095
4 failure to thrive HP:0001508
5 small for gestational age HP:0001518
6 hypokalemia HP:0002900
7 decreased circulating aldosterone level HP:0002924
8 decreased circulating renin level HP:0003351
9 variable expressivity HP:0003828
10 hypoaldosteronism HP:0004319
11 short stature HP:0004322
12 metabolic alkalosis HP:0200114

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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Drugs for Apparent Mineralocorticoid Excess (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
glycyrrhetinic acidPhase 2, Phase 36471-53-418526330
Synonyms:
18b-Glycyrrhetic acid
18b-Glycyrrhetinic acid
18b-Glycyrrhtinic acid
3-Glycyrrhetinic acid
3-Hydroxy-11-oxoolean-12-en-29-oate
3-Hydroxy-11-oxoolean-12-en-29-oic acid
3-Hydroxy-11-oxoolean-12-en-29-oic acid (ACD/Name 4.0)
3b-Hydroxy-11-oxo-Olean-12-en-30-oate
3b-Hydroxy-11-oxo-Olean-12-en-30-oic acid
3b-Hydroxy-11-oxoolean-12-en-30-oate
 
3b-Hydroxy-11-oxoolean-12-en-30-oic acid
Biosone
Enoxolone
Glycyrrhetic acid
Glycyrrhetin
Glycyrrhetinate
Glycyrrhetinic acid
Uralenic acid
a-Glycyrrhetinic acid
alpha-Glycyrrhetinic acid
b-Glycyrrhetic acid
beta-Glycyrrhetic acid
2MineralocorticoidsPhase 2, Phase 3294
3LicoriceNutraceuticalPhase 2, Phase 328

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Role of Mineralocorticoid Receptors in Vascular FunctionCompletedNCT00759525Phase 2, Phase 3
2Natural History of Apparent Mineralocorticoid Excess SyndromeCompletedNCT00474942

Search NIH Clinical Center for Apparent Mineralocorticoid Excess


Cochrane evidence based reviews: Mineralocorticoid Excess Syndrome, Apparent

Genetic Tests for Apparent Mineralocorticoid Excess

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Genetic tests related to Apparent Mineralocorticoid Excess:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess Syndrome22 HSD11B2
2 Apparent Mineralocorticoid Excess24

Anatomical Context for Apparent Mineralocorticoid Excess

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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

33
Kidney

Animal Models for Apparent Mineralocorticoid Excess or affiliated genes

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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0HSD11B1, HSD11B2, NR3C1, NR3C2, REN
2MP:00053758.6HSD11B1, NR3C1, PIK3C2A, POMC
3MP:00053858.3HSD11B1, HSD11B2, NR3C1, NR3C2, POMC, REN
4MP:00053977.6HSD11B1, NR3C1, NR3C2, PIK3C2A, POMC, REN
5MP:00053867.5ATP6V0A4, HSD11B1, HSD11B2, NR3C1, NR3C2, POMC
6MP:00053677.4ATP6V0A4, HSD11B2, NR3C1, NR3C2, PIK3C2A, POMC
7MP:00053787.2ATP6V0A4, HSD11B1, NR3C1, NR3C2, PIK3C2A, POMC
8MP:00053766.5ATP6V0A4, HSD11B1, HSD11B2, NR3C1, NR3C2, PIK3C2A

Publications for Apparent Mineralocorticoid Excess

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Articles related to Apparent Mineralocorticoid Excess:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation. (26126204)
2015
2
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. (25593612)
2015
3
Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-I^ Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy. (24936560)
2014
4
Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood. (23945123)
2014
5
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. (23329753)
2012
6
Apparent mineralocorticoid excess - update. (21691952)
2011
7
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. (21042587)
2010
8
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. (18032795)
2008
9
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. (19169481)
2008
10
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. (17516565)
2007
11
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. (17198920)
2007
12
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. (17314322)
2007
13
From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. (17447595)
2007
14
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. (17035606)
2006
15
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. (15126515)
2004
16
Distinction between Liddle syndrome and apparent mineralocorticoid excess. (14625721)
2004
17
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. (15134813)
2004
18
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. (12860834)
2003
19
The distinction between Liddle syndrome and apparent mineralocorticoid excess. (12759812)
2003
20
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. (12788846)
2003
21
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. (11227727)
2001
22
Apparent mineralocorticoid excess. (11306334)
2001
23
Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years]. (10883518)
2000
24
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. (11202632)
2000
25
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. (11154148)
2000
26
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. (11095013)
2000
27
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? (11005270)
2000
28
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. (10536001)
1999
29
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. (10489390)
1999
30
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. (10523339)
1999
31
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. (9661590)
1998
32
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. (9851783)
1998
33
Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. (9683587)
1998
34
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. (9398712)
1997
35
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. (9034789)
1997
36
A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency]. (9404418)
1997
37
Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. (9431844)
1997
38
Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype. (8641723)
1996
39
Apparent mineralocorticoid excess: type I and type II. (8732999)
1996
40
Apparent mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase deficiency: a possible cause of intrauterine growth retardation. (8729536)
1996
41
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. (8538347)
1996
42
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. (8793850)
1996
43
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. (7593417)
1995
44
Apparent mineralocorticoid excess, 11beta hydroxysteroid dehydrogenase and aldosterone action Closing one loop, opening another. (18406708)
1995
45
The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. (7593456)
1995
46
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. (7608290)
1995
47
Apparent mineralocorticoid excess. (8575412)
1995
48
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. (8370690)
1993
49
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. (1879399)
1991
50
Apparent mineralocorticoid excess, pseudohypoaldosteronism, and urinary electrolyte excretion: toward a redefinition of mineralocorticoid action. (2172062)
1990

Variations for Apparent Mineralocorticoid Excess

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UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess:

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1HSD11B2p.Arg208CysVAR_006958
2HSD11B2p.Arg213CysVAR_006959
3HSD11B2p.Leu179ArgVAR_015635
4HSD11B2p.Ser180PheVAR_015636
5HSD11B2p.Arg186CysVAR_015637
6HSD11B2p.Arg208HisVAR_015638
7HSD11B2p.Ala237ValVAR_015640
8HSD11B2p.Asp244AsnVAR_015641
9HSD11B2p.Leu250ArgVAR_015642
10HSD11B2p.Arg279CysVAR_015644
11HSD11B2p.Ala328ValVAR_015645
12HSD11B2p.Tyr338HisVAR_015646
13HSD11B2p.Asp223AsnVAR_066514
14HSD11B2p.Arg337CysVAR_066515

Clinvar genetic disease variations for Apparent Mineralocorticoid Excess:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1HSD11B2NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys)single nucleotide variantPathogenicrs121917780GRCh37Chr 16, 67470003: 67470003
2HSD11B2NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys)single nucleotide variantPathogenicrs28934591GRCh37Chr 16, 67470018: 67470018
3HSD11B2NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys)single nucleotide variantPathogenicrs121917781GRCh37Chr 16, 67470697: 67470697
4HSD11B2NM_000196.3(HSD11B2): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs28934592GRCh37Chr 16, 67470004: 67470004
5HSD11B2NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis)deletionPathogenicrs397509434GRCh37Chr 16, 67470698: 67470700
6HSD11B2NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys)single nucleotide variantPathogenicrs28934594GRCh37Chr 16, 67470523: 67470523
7HSD11B2NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn)single nucleotide variantPathogenicrs121917833GRCh37Chr 16, 67470154: 67470154
8HSD11B2NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del)deletionPathogenicrs794726670GRCh37Chr 16, 67470583: 67470585
9HSD11B2NM_000196.3(HSD11B2): c.664+14C> Tsingle nucleotide variantPathogenicrs376023420GRCh37Chr 16, 67470059: 67470059
10HSD11B2NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His)single nucleotide variantPathogenicrs387907117GRCh37Chr 16, 67470700: 67470700
11HSD11B2NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs)deletionPathogenicrs794726684GRCh37Chr 16, 67465228: 67465229

Expression for genes affiliated with Apparent Mineralocorticoid Excess

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Search GEO for disease gene expression data for Apparent Mineralocorticoid Excess.

Pathways for genes affiliated with Apparent Mineralocorticoid Excess

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GO Terms for genes affiliated with Apparent Mineralocorticoid Excess

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Biological processes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glucocorticoid metabolic processGO:000821110.2HSD11B2, NR3C1
2steroid hormone mediated signaling pathwayGO:00434019.9NR3C1, NR3C2
3glucocorticoid biosynthetic processGO:00067049.8HSD11B1, HSD11B2
4excretionGO:00075889.1ATP6V0A4, CLCNKB, NR3C2

Molecular functions related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
111-beta-hydroxysteroid dehydrogenase [NAD(P)] activityGO:000384510.3HSD11B1, HSD11B2
2steroid hormone receptor activityGO:000370710.1NR3C1, NR3C2
3steroid bindingGO:00054969.8HSD11B2, NR3C1, NR3C2
4oxidoreductase activityGO:00164919.3HSD11B1, HSD11B2, HSD17B6

Sources for Apparent Mineralocorticoid Excess

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet